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Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Annals of laboratory medicine - 1 Nov 2024

Jo Kwan Hoon, Lee Jaewoong, Yoo Jaeeun, Kim Hoon Seok, Kim Eun Sook, Han Je Ho, Jang Yi Sun, Yun Jae-Seung, Son Jang Won, Yoo Soon Jib, Lee Seung Hwan, Lim Dong Jun, Kwon Hyuk-Sang, Lee Seungok, Moon Sungdae, Kim Myungshin

Abstract excerpt

Genetic testing is recommended for all patients with pheochromocytomas and paragangliomas (PPGL) to establish genotype-phenotype associations. We investigated germline mutations in 59 patients with PPGL at six Korean university hospitals using next-generation sequencing (NGS) targeting 38 PPGL-associated genes, including those recommended by the Korean PPGL Task Force. Germline mutations were identified in 13...

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Identifiers

PMID: 39069753
DOI: 10.3343/alm.2023.0376
PMCID: PMC11375186

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